Variant report

Variant	rs12634353
Chromosome Location	chr3:150819083-150819084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150818466..150820252-chr3:150830514..150832055,2	MCF-7	breast:
2	chr3:150806500..150808357-chr3:150818447..150820046,2	MCF-7	breast:
3	chr3:150812906..150816565-chr3:150818005..150820586,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1220996	0.82[CEU][hapmap]
rs1221001	0.80[EUR][1000 genomes]
rs13434276	0.88[AFR][1000 genomes]
rs1346943	1.00[ASW][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.93[AFR][1000 genomes]
rs1554121	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs2043171	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2048229	0.93[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs2567322	0.93[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2700471	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs2700473	0.82[CEU][hapmap]
rs2700474	0.81[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs60312353	0.81[EUR][1000 genomes]
rs6780053	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs7629773	0.89[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs7649164	0.81[EUR][1000 genomes]
rs7653870	0.93[EUR][1000 genomes]
rs965843	0.93[AFR][1000 genomes]
rs970235	1.00[ASW][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];0.92[AFR][1000 genomes]
rs9846066	0.82[EUR][1000 genomes]
rs9850016	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915879	chr3:150607390-150860207	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv829756	chr3:150692636-150889738	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv877648	chr3:150792444-150895145	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150809800-150827400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:150811600-150821000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:150812000-150819200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150812000-150824800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:150812200-150819200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:150812200-150819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:150812400-150819600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:150814800-150819200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:150814800-150819200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:150814800-150819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:150815600-150819800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:150818000-150823600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:150818400-150819400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:150818400-150820400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:150818400-150821000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:150818800-150820800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:150819000-150819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:150819000-150819600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:150819000-150819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:150819000-150819800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:150819000-150819800	Enhancers	Brain Anterior Caudate	brain
22	chr3:150819000-150820200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:150819000-150820200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:150819000-150820200	Enhancers	Fetal Heart	heart
25	chr3:150819000-150820600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:150819000-150820600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:150819000-150820800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:150819000-150822000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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